Associated Papers
A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
Guo X et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2021
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
Lhota F et al.
Clinical Genetics, 2016
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH2T2
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
Marsh CA et al.
Fertility and Sterility, 2014
A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency.
Lee ES et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2013
[A compound heterozygous mutation in CYP17A1 gene in a female subject with partial 17α-hydroxylase/17, 20 lyase deficiency].
Jiang Y et al.
Zhonghua Yi Xue Za Zhi, 2011
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency.
Hwang DY et al.
Plos One, 2011
Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency.
Bhangoo A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
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